DNA sequencing reveals the fate, and ultimate extinction, of Ötzi the Iceman’s matern

Ever since Ötzi’s body was discovered in 1991, scientists have sought to understand not only who he was and how he lived, but also where he lay within Europe’s genetic history. Although the sequence of Otzi’s mitochondrial genome was published in 2008, and his nuclear genomic sequence was reported in 2012, several questions remained unanswered. When Ötzi’s mitochondrial genome was sequenced in 2008, scientists showed that it belonged to the relatively broad K1 mitochondrial genetic lineage. More specifically, Ötzi’s maternal genetic lineage was referred to as K1f. The authors had compared the Iceman’s mitochondrial genomic sequence to modern samples, hoping to identify any traces of the K1f mitochondrial lineage within the modern population. However, a relatively limited set of modern samples hampered their ability to conclusively uncover Ötzi’s maternal genomic signature within the modern humans of today. Traces of the K1f lineage could have been absent from the samples in 2008, either because the sample size was too small, or because the K1f genetic line had gone extinct.

According to Valentina Coia, first author of this most recent study “The first hypothesis could not be ruled out given that the study considered only 85 modern comparison samples from the K1 lineage – the genetic lineage that also includes that of Ötzi – which comprised few samples from Europe and especially none from the eastern Alps, which are home to populations that presumably have a genetic continuity with the Iceman. To test the two hypotheses, we needed to compare Ötzi’s mitochondrial DNA with a larger number of modern samples.” In order to confirm the extinction of Ötzi’s maternal genetic line, Coia and her colleagues examined the DNA of 1,077 individuals including members of Ötzi’s broader K1 lineage, as well as individuals descending from similar genetic lineages. Despite the relatively large set of samples studied, the research teams were unable to uncover evidence of the Iceman’s K1f maternal genetic lineage, or even genetically close lineages, within the modern population.

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Anomalism said:

Ötzi the Iceman's maternal genetic lineage is extinct.

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